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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cone-rod dystrophy 24
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Accession:DOID:0081449 term browser browse the term
Definition:A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: CORD24
 broad_synonym: UNC119-RELATED CONDITION
 alt_id: DOID:9005636
 xref: MONDO:0957240;   OMIM:620342


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cone-rod dystrophy 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 24 OMIM
ClinVar		 PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        Hereditary Eye Diseases 1104
          cone-rod dystrophy 108
            cone-rod dystrophy 24 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              eye degenerative disease 858
                retinal degeneration 856
                  fundus dystrophy 705
                    cone-rod dystrophy 108
                      cone-rod dystrophy 24 1
paths to the root